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DDHD2 (DDHD domain containing 2)

Identity

Alias_namesSAMWD1
SAM
Alias_symbol (synonym)KIAA0725
SPG54
Other aliasiPLA(1)gamma
HGNC (Hugo) DDHD2
LocusID (NCBI) 23259
Atlas_Id 55538
Location 8p11.23  [Link to chromosome band 8p11]
Location_base_pair Starts at 38089471 and ends at 38120287 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)DDHD2   29106
Cards
Entrez_Gene (NCBI)DDHD2  23259  DDHD domain containing 2
AliasesSAMWD1; SPG54; iPLA(1)gamma
GeneCards (Weizmann)DDHD2
Ensembl hg19 (Hinxton)ENSG00000085788 [Gene_View]  chr8:38089471-38120287 [Contig_View]  DDHD2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000085788 [Gene_View]  chr8:38089471-38120287 [Contig_View]  DDHD2 [Vega]
ICGC DataPortalENSG00000085788
TCGA cBioPortalDDHD2
AceView (NCBI)DDHD2
Genatlas (Paris)DDHD2
WikiGenes23259
SOURCE (Princeton)DDHD2
Genetics Home Reference (NIH)DDHD2
Genomic and cartography
GoldenPath hg19 (UCSC)DDHD2  -     chr8:38089471-38120287 +  8p11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DDHD2  -     8p11.23   [Description]    (hg38-Dec_2013)
EnsemblDDHD2 - 8p11.23 [CytoView hg19]  DDHD2 - 8p11.23 [CytoView hg38]
Mapping of homologs : NCBIDDHD2 [Mapview hg19]  DDHD2 [Mapview hg38]
OMIM615003   615033   
Gene and transcription
Genbank (Entrez)AB018268 AK023218 AK026961 AK056525 AK094951
RefSeq transcript (Entrez)NM_001164232 NM_001164234 NM_015214
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_033875 NT_167187 NW_004929337
Consensus coding sequences : CCDS (NCBI)DDHD2
Cluster EST : UnigeneHs.434966 [ NCBI ]
CGAP (NCI)Hs.434966
Alternative Splicing GalleryENSG00000085788
Gene ExpressionDDHD2 [ NCBI-GEO ]   DDHD2 [ EBI - ARRAY_EXPRESS ]   DDHD2 [ SEEK ]   DDHD2 [ MEM ]
Gene Expression Viewer (FireBrowse)DDHD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23259
GTEX Portal (Tissue expression)DDHD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94830   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO94830  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO94830
Splice isoforms : SwissVarO94830
Catalytic activity : Enzyme3.1.1.- [ Enzyme-Expasy ]   3.1.1.-3.1.1.- [ IntEnz-EBI ]   3.1.1.- [ BRENDA ]   3.1.1.- [ KEGG ]   
PhosPhoSitePlusO94830
Domaine pattern : Prosite (Expaxy)DDHD (PS51043)    WWE (PS50918)   
Domains : Interpro (EBI)DDHD_dom    SAM    SAM/pointed    WWE-dom   
Domain families : Pfam (Sanger)DDHD (PF02862)    SAM_1 (PF00536)    WWE (PF02825)   
Domain families : Pfam (NCBI)pfam02862    pfam00536    pfam02825   
Domain families : Smart (EMBL)SAM (SM00454)  
Conserved Domain (NCBI)DDHD2
DMDM Disease mutations23259
Blocks (Seattle)DDHD2
SuperfamilyO94830
Human Protein AtlasENSG00000085788
Peptide AtlasO94830
HPRD16788
IPIIPI00871731   IPI00911087   IPI00943714   IPI00304761   IPI00978139   IPI00978166   IPI00980573   IPI01011261   IPI00982518   IPI00985477   IPI00979548   IPI00980219   IPI00981871   IPI00976428   IPI00983512   
Protein Interaction databases
DIP (DOE-UCLA)O94830
IntAct (EBI)O94830
FunCoupENSG00000085788
BioGRIDDDHD2
STRING (EMBL)DDHD2
ZODIACDDHD2
Ontologies - Pathways
QuickGOO94830
Ontology : AmiGOcytoplasm  endoplasmic reticulum-Golgi intermediate compartment  Golgi apparatus  microtubule organizing center  cytosol  phosphatidic acid biosynthetic process  lipid catabolic process  hydrolase activity  metal ion binding  positive regulation of mitochondrial fission  
Ontology : EGO-EBIcytoplasm  endoplasmic reticulum-Golgi intermediate compartment  Golgi apparatus  microtubule organizing center  cytosol  phosphatidic acid biosynthetic process  lipid catabolic process  hydrolase activity  metal ion binding  positive regulation of mitochondrial fission  
NDEx NetworkDDHD2
Atlas of Cancer Signalling NetworkDDHD2
Wikipedia pathwaysDDHD2
Orthology - Evolution
OrthoDB23259
GeneTree (enSembl)ENSG00000085788
Phylogenetic Trees/Animal Genes : TreeFamDDHD2
HOVERGENO94830
HOGENOMO94830
Homologs : HomoloGeneDDHD2
Homology/Alignments : Family Browser (UCSC)DDHD2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDDHD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DDHD2
dbVarDDHD2
ClinVarDDHD2
1000_GenomesDDHD2 
Exome Variant ServerDDHD2
ExAC (Exome Aggregation Consortium)DDHD2 (select the gene name)
Genetic variants : HAPMAP23259
Genomic Variants (DGV)DDHD2 [DGVbeta]
DECIPHER (Syndromes)8:38089471-38120287  ENSG00000085788
CONAN: Copy Number AnalysisDDHD2 
Mutations
ICGC Data PortalDDHD2 
TCGA Data PortalDDHD2 
Broad Tumor PortalDDHD2
OASIS PortalDDHD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDDHD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDDHD2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DDHD2
DgiDB (Drug Gene Interaction Database)DDHD2
DoCM (Curated mutations)DDHD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DDHD2 (select a term)
intoGenDDHD2
Cancer3DDDHD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615003    615033   
Orphanet21717   
MedgenDDHD2
Genetic Testing Registry DDHD2
NextProtO94830 [Medical]
TSGene23259
GENETestsDDHD2
Huge Navigator DDHD2 [HugePedia]
snp3D : Map Gene to Disease23259
BioCentury BCIQDDHD2
ClinGenDDHD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23259
Chemical/Pharm GKB GenePA128394618
Clinical trialDDHD2
Miscellaneous
canSAR (ICR)DDHD2 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDDHD2
EVEXDDHD2
GoPubMedDDHD2
iHOPDDHD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:58:33 CEST 2017

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